Linked Data
ClinVar Variation Id:
11955
ClinVar RCV Id:
RCV000012733
dbSNP Id:
rs121964996
gnomAD v2:
1-24144010-C-G
gnomAD v3:
1-23817520-C-G
gnomAD v4:
1-23817520-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23817520C>G , CM000663.2:g.23817520C>G | GRCh38 |
| NC_000001.10:g.24144010C>G , CM000663.1:g.24144010C>G | GRCh37 |
| NC_000001.9:g.24016597C>G | NCBI36 |
| NG_013061.1:g.12940G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374490.8:c.208G>C MANE Select | ENSP00000363614.3:p.Val70Leu | |
| ENST00000235958.4:c.131+2990G>C | ||
| ENST00000374487.6:c.*249G>C | ENSP00000363611.2:n.*249G>C | |
| ENST00000374490.7:c.208G>C | ENSP00000363614.3:p.Val70Leu | |
| ENST00000436439.6:c.208G>C | ENSP00000389281.2:p.Val70Leu | |
| ENST00000498698.1:n.14G>C | ||
| ENST00000509389.5:n.220G>C | ||
| ENST00000513148.1:n.209G>C | ||
| NM_000191.2:c.208G>C | NP_000182.2:p.Val70Leu | |
| NM_001166059.1:c.208G>C | NP_001159531.1:p.Val70Leu | |
| NM_000191.3:c.208G>C MANE Select | NP_000182.2:p.Val70Leu | |
| NM_001166059.2:c.208G>C | NP_001159531.1:p.Val70Leu |